EA3 study: Women’s health – PCOS and infertility study, and data in Sandbox

If you wish to use EA3 data, please familiarize yourself with these instructions.

Sandbox directory

/finngen/library-red/EA3_WOMENS_HEALTH_PCOS_1.0/

Study description

Expansion Area 3 (EA3) studies aim to acquire additional clinical data centered around specific diseases through biobanks.

Aim: The PCOS deep phenotyping study aimed to investigate the genetic background of different PCOS phenotypes with hormonal and metabolic laboratory measurements among women diagnosed with anovulatory infertility or PCOS. The study also aimed to investigate the association of metabolic and hormonal parameters with the genetic markers of hirsutism and ovarian hyperstimulation syndrome (OHSS). Additional aim was to further define phenotypes of infertility variant carriers known to cause severe infertility problems.

Methods: Data was captured from six biobanks, Auria, Helsinki, Central Finland, Borealis, Tampere, and Eastern Finland biobanks. Laboratory database searches were done for relevant hormonal parameters, blood glucose, lipids, liver enzymes, creatinine, and urine tests.

Physiological measurements BMI, height and weight was captured from six biobanks, Auria, Helsinki, Central Finland, Borealis, Tampere, and Eastern Finland biobanks.

More detailed phenotype data of infertility variant carriers was collected from five biobanks, Helsinki, Auria, Central-Finland, Tampere and Eastern Finland biobanks.

Data: The PCOS and infertility laboratory and physical measurement data has been placed in the Sandbox and is available for analysis. The PCOS and infertility samples are from DF12 and has been collected from 6/6 hospital biobanks. Data collection time 1.1.1990-1.2.2023.

The detailed phenotype data from infertility variant carriers has been placed to Sandbox under main PCOS folder (link above). Samples are from DF12 and has been collected from 5/6 biobanks.

Summary of the data: